SLC34A3

This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene. [provided by RefSeq, Apr 2010]

Description

Solute carrier family 34 member 3

Tissue specificity

Tissue enhanced (intestine, kidney)

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

9 (137230757 - 137236555)

Ensembl ID

ENSG00000198569  (ver. 103.38)

Orthologs

Mouse Slc34a3: ENSMUSG00000006469

UniProt

Q8N130

neXtProt

NX_Q8N130

Human splice variants
Mouse splice variants

Protein structure